MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Spinocerebellar ataxia type 7

ORPHA:94147Kr.
Autosomal dominant

Spinocerebellar ataxia type 8

ORPHA:98760Kr.
Autosomal dominant

Spinocerebellar ataxia with axonal neuropathy type 1

ORPHA:94124Kr.
Autosomal recessive

Spinocerebellar ataxia with axonal neuropathy type 2

ORPHA:64753Kr.
Autosomal recessive

Spinocerebellar ataxia with epilepsy

ORPHA:254881Kr.
Autosomal recessive

Spinocerebellar ataxia-dysmorphism syndrome

ORPHA:1185Kr.
Autosomal recessive

Spinocerebellar degeneration-corneal dystrophy syndrome

ORPHA:3177Malf.
Autosomal recessive

Spirillary rat-bite fever

ORPHA:99903Ätl. subt.

Splenic arteriovenous malformation

ORPHA:693863Malf.
Not applicable

Splenic marginal zone lymphoma

ORPHA:86854Kr.
Not applicable

Splenic venous malformation

ORPHA:688523Kr.
Not applicable

Splenogonadal fusion-limb defects-micrognathia syndrome

ORPHA:2063Malf.

Split cord malformation

ORPHA:573278Kl. gruppe

Split cord malformation type I

ORPHA:1671Morph.

Split cord malformation type II

ORPHA:573253Morph.

Split cord malformation, composite type

ORPHA:633076Morph.

Split hand-split foot-deafness syndrome

ORPHA:71271Malf.
Autosomal recessive

Split-foot malformation-mesoaxial polydactyly syndrome

ORPHA:488232Malf.
Autosomal recessive

Spondylo-megaepiphyseal-metaphyseal dysplasia

ORPHA:228387Kr.
Autosomal recessive

Spondylo-ocular syndrome

ORPHA:85194Malf.
Autosomal recessive

Spondylocamptodactyly syndrome

ORPHA:3180Malf.

Spondylocarpotarsal synostosis

ORPHA:3275Malf.
Autosomal recessive

Spondylodysplastic Ehlers-Danlos syndrome

ORPHA:536471Kr.

Spondyloenchondrodysplasia

ORPHA:1855Malf.
Autosomal recessive